MutatedRAP1GDS1causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
نویسندگان
چکیده
منابع مشابه
A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay
Mutations in the Jumonji AT-rich interactive domain 1C (JARID1C/SMCX/KDM5C) gene, located at Xp11.22, are emerging as frequent causes of X-linked intellectual disability (XLID). KDM5C encodes for a member of an ARID protein family that harbors conserved DNA-binding motifs and acts as a histone H3 lysine 4 demethylase, suggesting a potential role in epigenetic regulation during development, cell...
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Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mut...
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متن کاملA de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.
We describe a boy presenting with intellectual disability and dysmorphic features in whom a cryptic microdeletion in chromosome band 2q12.1 was identified with array CGH. The deletion results in a loss of the POU3F3 and MRPS9 genes. In this paper, we discuss the possible role of POU3F3 haploinsufficiency in relation to the boy's phenotype.
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ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2020
ISSN: 2328-9503,2328-9503
DOI: 10.1002/acn3.51059